"Illumina Laboratory Services, Illumina"[submitter] AND "XDH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895381	NM_000379.4(XDH):c.*1601G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335733	NM_000379.4(XDH):c.*1555G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 335734	NM_000379.4(XDH):c.*1516C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 335735	NM_000379.4(XDH):c.*1494A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335736	NM_000379.4(XDH):c.*1491A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335737	NM_000379.4(XDH):c.*1477A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 335738	NM_000379.4(XDH):c.*1452C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896781	NM_000379.4(XDH):c.*1417A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335739	NM_000379.4(XDH):c.*1407C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896782	NM_000379.4(XDH):c.*1338G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897263	NM_000379.4(XDH):c.*1264G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897264	NM_000379.4(XDH):c.*1220C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897265	NM_000379.4(XDH):c.*1183T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335740	NM_000379.4(XDH):c.*1094A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Xanthinuria	GUncertain significance
Select item 335741	NM_000379.4(XDH):c.*1081A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 897266	NM_000379.4(XDH):c.*1062T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335742	NM_000379.4(XDH):c.*945C>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335743	NM_000379.4(XDH):c.*938G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897267	NM_000379.4(XDH):c.*913T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335744	NM_000379.4(XDH):c.*912A>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335745	NM_000379.4(XDH):c.*881G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335746	NM_000379.4(XDH):c.*878T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335747	NM_000379.4(XDH):c.*829G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335748	NM_000379.4(XDH):c.*823A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898437	NM_000379.4(XDH):c.*732T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898438	NM_000379.4(XDH):c.*731A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335749	NM_000379.4(XDH):c.*705CT[1]	XDH	Microsatellite (3 prime UTR variant)	Xanthinuria	GLikely benign
Select item 335750	NM_000379.4(XDH):c.*699C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895444	NM_000379.4(XDH):c.*694T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895445	NM_000379.4(XDH):c.*693G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895446	NM_000379.4(XDH):c.*686A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895447	NM_000379.4(XDH):c.*674C>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895448	NM_000379.4(XDH):c.*628A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895449	NM_000379.4(XDH):c.*570G>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335751	NM_000379.4(XDH):c.*518A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 335752	NM_000379.4(XDH):c.*475A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896849	NM_000379.4(XDH):c.*437C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335753	NM_000379.4(XDH):c.*404C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896850	NM_000379.4(XDH):c.*371C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896851	NM_000379.4(XDH):c.*308C>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896852	NM_000379.4(XDH):c.*220G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896854	NM_000379.4(XDH):c.*193G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 896853	NM_000379.4(XDH):c.*193G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 896855	NM_000379.4(XDH):c.*105C>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897346	NM_000379.4(XDH):c.*43T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335754	NM_000379.4(XDH):c.*41G>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 897347	NM_000379.4(XDH):c.*6G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897348	NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr)	XDH (C1318Y)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897349	NM_000379.4(XDH):c.3951+14C>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 335755	NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)	XDH (K1313E)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 335756	NM_000379.4(XDH):c.3930C>T (p.Cys1310=)	XDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897350	NM_000379.4(XDH):c.3919C>T (p.Arg1307Cys)	XDH (R1307C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898500	NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp)	XDH (R1296W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 335757	NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg)	XDH (K1292R)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GLikely benign
Select item 791699	NM_000379.4(XDH):c.3864T>C (p.Gly1288=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 335758	NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter)	XDH (R1283*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898501	NM_000379.4(XDH):c.3774+15G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 898502	NM_000379.4(XDH):c.3771G>A (p.Ser1257=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 255970	NM_000379.4(XDH):c.3717G>A (p.Glu1239=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +3 more	GBenign
Select item 898503	NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe)	XDH (I1238F)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 898504	NM_000379.4(XDH):c.3677G>A (p.Ser1226Asn)	XDH (S1226N)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335759	NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile)	XDH (T1222I)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 895510	NM_000379.4(XDH):c.3662A>G (p.His1221Arg)	XDH (H1221R)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335760	NM_000379.4(XDH):c.3647C>A (p.Pro1216His)	XDH (P1216H)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 895511	NM_000379.4(XDH):c.3614G>C (p.Gly1205Ala)	XDH (G1205A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895512	NM_000379.4(XDH):c.3562A>C (p.Asn1188His)	XDH (N1188H)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 790908	NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)	XDH (I1179T)	Single nucleotide variant (missense variant)	Xanthinuria type II +3 more	GConflicting classifications of pathogenicity
Select item 895513	NM_000379.4(XDH):c.3527G>A (p.Arg1176His)	XDH (R1176H)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 576949	NM_000379.4(XDH):c.3488T>C (p.Val1163Ala)	XDH (V1163A)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 896913	NM_000379.4(XDH):c.3405-15T>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 896914	NM_000379.4(XDH):c.3354C>G (p.Val1118=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896915	NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr)	XDH (N1109T)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GBenign
Select item 335761	NM_000379.4(XDH):c.3277-13del	XDH	Deletion (intron variant)	Xanthinuria	GUncertain significance
Select item 896916	NM_000379.4(XDH):c.3277-14G>T	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 191300	NM_000379.4(XDH):c.3276+12A>G	XDH	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 335762	NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)	XDH (V1091L)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335763	NM_000379.4(XDH):c.3249C>T (p.Ser1083=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 897414	NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly)	XDH (S1052G)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 335764	NM_000379.4(XDH):c.3148-4G>T	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335765	NM_000379.4(XDH):c.3084C>T (p.Gly1028=)	XDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 335766	NM_000379.4(XDH):c.3059C>T (p.Ala1020Val)	XDH (A1020V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335767	NM_000379.4(XDH):c.3052-4C>T	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 255969	NM_000379.4(XDH):c.3052-12C>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +3 more	GBenign
Select item 897415	NM_000379.4(XDH):c.3043C>T (p.Leu1015=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 255968	NM_000379.4(XDH):c.3030T>C (p.Phe1010=)	XDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 711191	NM_000379.4(XDH):c.3018T>C (p.Phe1006=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 335768	NM_000379.4(XDH):c.2911G>A (p.Glu971Lys)	XDH (E971K)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335769	NM_000379.4(XDH):c.2851G>A (p.Gly951Arg)	XDH (G951R)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 898581	NM_000379.4(XDH):c.2828G>A (p.Arg943Gln)	XDH (R943Q)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898582	NM_000379.4(XDH):c.2751G>A (p.Gly917=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 898583	NM_000379.4(XDH):c.2728A>G (p.Thr910Ala)	XDH (T910A)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 335770	NM_000379.4(XDH):c.2634T>C (p.Ile878=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +3 more	GConflicting classifications of pathogenicity
Select item 335771	NM_000379.4(XDH):c.2592C>T (p.His864=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 895585	NM_000379.4(XDH):c.2554A>T (p.Met852Leu)	XDH (M852L)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335772	NM_000379.4(XDH):c.2488C>T (p.Arg830Cys)	XDH (R830C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895586	NM_000379.4(XDH):c.2452T>C (p.Tyr818His)	XDH (Y818H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 895587	NM_000379.4(XDH):c.2441C>T (p.Ala814Val)	XDH (A814V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 574241	NM_000379.4(XDH):c.2437G>C (p.Val813Leu)	XDH (V813L)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GUncertain significance
Select item 895588	NM_000379.4(XDH):c.2413C>T (p.Arg805Trp)	XDH (R805W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 650290	NM_000379.4(XDH):c.2362A>T (p.Ile788Phe)	XDH (I788F)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GUncertain significance

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